Q21K (p.Gln21Lys) variant of KIF5A (Kinesin heavy chain isoform 5A)
Q21K (p.Gln21Lys) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q21K (p.Gln21Lys) variant details
- p.Gln21Lys
- gnomAD 12-57550332-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.15
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available